Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3755642013 | X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3755644014 | X-linked dyserythropoietic anemia with abnormal platelets and neutropenia | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3755648012 | X-linked dyserythropoietic anaemia with abnormal platelets and neutropenia | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3755645010 | A rare genetic constitutional dyserythropoietic anemia disorder characterized by moderate to severe anemia without thrombocytopenia, variable degrees of neutropenia and bone marrow biopsy findings of trilineage dysplasia and hypocellularity of erythroid and granulocytic lineages. Peripheral blood findings include anisocytosis, macrocytosis, poikilocytosis, elliptocytes, and fragmented erythrocytes. Caused by mutation in the GATA1 gene on chromosome Xp11. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3755646011 | A rare genetic constitutional dyserythropoietic anaemia disorder characterised by moderate to severe anaemia without thrombocytopenia, variable degrees of neutropenia and bone marrow biopsy findings of trilineage dysplasia and hypocellularity of erythroid and granulocytic lineages. Peripheral blood findings include anisocytosis, macrocytosis, poikilocytosis, elliptocytes, and fragmented erythrocytes. Caused by mutation in the GATA1 gene on chromosome Xp11. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (disorder) | a pour interprétation (attribut) | au-dessous de l'étendue de référence | true | Inferred relationship | Some | 4 | |
| X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (disorder) | est un(e) (attribut) | anémie dysérythropoïétique congénitale (trouble) | true | Inferred relationship | Some | ||
| X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (disorder) | est un(e) (attribut) | Congenital neutropenia | true | Inferred relationship | Some | ||
| X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (disorder) | est un(e) (attribut) | Hereditary white blood cell disorder (disorder) | true | Inferred relationship | Some | ||
| X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (disorder) | a pour interprétation (attribut) | au-dessous de l'étendue de référence | true | Inferred relationship | Some | 3 | |
| X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (disorder) | interprète (attribut) | Measurement of total haemoglobin concentration | true | Inferred relationship | Some | 4 | |
| X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (disorder) | est un(e) (attribut) | Giant platelet syndrome | true | Inferred relationship | Some | ||
| X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (disorder) | est un(e) (attribut) | X-linked hereditary disease | false | Inferred relationship | Some | ||
| X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (disorder) | Pathological process (attribute) | Abnormal immune process (qualifier value) | true | Inferred relationship | Some | 1 | |
| X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (disorder) | a pour interprétation (attribut) | anormal | true | Inferred relationship | Some | 7 | |
| X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (disorder) | interprète (attribut) | Hemostatic function (observable entity) | false | Inferred relationship | Some | 7 | |
| X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (disorder) | interprète (attribut) | Neutrophil count | true | Inferred relationship | Some | 3 | |
| X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (disorder) | localisation d'une constatation (attribut) | Erythrocyte | true | Inferred relationship | Some | 5 | |
| X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (disorder) | a pour interprétation (attribut) | au-dessous de l'étendue de référence | true | Inferred relationship | Some | 2 | |
| X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (disorder) | interprète (attribut) | Red blood cell count | true | Inferred relationship | Some | 2 | |
| X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (disorder) | Due to | Decreased erythrocyte production | true | Inferred relationship | Some | 6 | |
| X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (disorder) | interprète (attribut) | Hemostatic function (observable entity) | true | Inferred relationship | Some | 7 | |
| X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (disorder) | est un(e) (attribut) | X-linked recessive hereditary disease | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR